Variant report

Variant	rs12423118
Chromosome Location	chr12:20676179-20676180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10841558	0.86[ASN][1000 genomes]
rs10841560	0.84[ASN][1000 genomes]
rs10841561	0.82[ASN][1000 genomes]
rs11045294	0.86[ASN][1000 genomes]
rs12425566	0.86[ASN][1000 genomes]
rs4561252	0.96[ASN][1000 genomes]
rs57544392	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59143079	0.82[ASN][1000 genomes]
rs6487103	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487104	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487105	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73075154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7308219	0.86[ASN][1000 genomes]
rs7487165	0.85[ASN][1000 genomes]
rs7955323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955819	0.94[ASN][1000 genomes]
rs7959560	0.80[ASN][1000 genomes]
rs7965577	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20667600-20680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:20670800-20679400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:20671000-20679800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:20673000-20677200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:20673800-20680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:20673800-20694200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:20673800-20704200	Weak transcription	Fetal Intestine Large	intestine
8	chr12:20674000-20676200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:20674000-20679600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:20674000-20680600	Weak transcription	Fetal Lung	lung
11	chr12:20674000-20681000	Weak transcription	Ovary	ovary
12	chr12:20674200-20679600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:20674600-20676200	ZNF genes & repeats	A549	lung
14	chr12:20674800-20677400	Enhancers	Right Ventricle	heart
15	chr12:20674800-20677600	Genic enhancers	Hela-S3	cervix
16	chr12:20675000-20676200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:20675000-20680400	Weak transcription	Fetal Stomach	stomach
18	chr12:20675000-20680400	Weak transcription	Left Ventricle	heart
19	chr12:20675200-20677400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:20675200-20680200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:20675200-20680200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:20675600-20680400	Enhancers	Osteobl	bone
23	chr12:20675800-20676600	Enhancers	Colon Smooth Muscle	Colon
24	chr12:20675800-20677000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:20676000-20676400	Enhancers	HUVEC	blood vessel
26	chr12:20676000-20676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:20676000-20677000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:20676000-20677400	Enhancers	NHDF-Ad	bronchial
29	chr12:20676000-20677600	Enhancers	Muscle Satellite Cultured Cells	--

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